Article
LDL receptor mutation genotype and vascular disease phenotype in heterozygous familial hypercholesterolaemia.
Clinical genetics - 1 Jun 2002
Brorholt-Petersen J U, Jensen H K, Jensen J M, Refsgaard J, Christiansen T, Hansen L B, Gregersen N, Faergeman O
Abstract excerpt
Patients with homozygous familial hypercholesterolaemia (FH) caused by receptor-negative, low-density lipoprotein (LDL) receptor gene mutations have higher concentrations of LDL-cholesterol in plasma and earlier onset of cardiovascular disease (CVD) than patients homozygous for receptor-defective, LDL receptor mutations. In contrast, it is uncertain whether the severity of atherosclerotic disease differs in...
Topics
- Adult
- Aged
- Arteriosclerosis
- Carotid Artery Diseases
- Codon, Terminator
- Family Health
- Female
- Genetic Testing
- Genotype
- Heterozygote
- Humans
- Hyperlipoproteinemia Type I
- Male
- Middle Aged
- Mutation